Metadata | |
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ID | DOID:0110610 |
Name | primary ciliary dyskinesia 34 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/27486783 |
Xrefs | |
Synonyms |
CILD34 [EXACT] primary ciliary dyskinesia 34 without situs inversus [EXACT] |
Parent Relationships |